G383D (p.Gly383Asp) variant of SLC9A6 (Sodium/hydrogen exchanger 6)
G383D (p.Gly383Asp) in SLC9A6 (Sodium/hydrogen exchanger 6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Christianson syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes published literature.
G383D (p.Gly383Asp) variant details
- p.Gly383Asp
- rs782108464
- ClinGen CA414751922
- ClinVar RCV001004677
- UniProt VAR 087518
- Pathogenic
- Christianson syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- AlphaMissense 0.93
- MetaLR 0.14
- MetaSVM -0.94
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.86
- ClinVar: Pathogenic (Christianson syndrome)
- EBI: Pathogenic (in MRXSCH)
- UniProt: Pathogenic (in MRXSCH)
- Cited in: Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome. (PMID 25044251)
- Cited in: Assorted dysfunctions of endosomal alkali cation/proton exchanger SLC9A6 variants linked to Christianson syndrome. (PMID 32277048)